Version May 2024
| Disease | Genetic defect | Inheritance | OMIM | Affected cells | Affected function | Associated features |
| Congenital neutropenias | ||||||
| Elastase deficiency (SCN1) | Elastase, neutrophil expressed (ELANE) | AD | 130130 | Neutrophils | Myeloid differentiation | Susceptibility to MDS/leukemia; SCN or cyclic neutropenia |
| GFI1 deficiency (SCN2) | Growth factor independent 1 transcriptional repressor (GFI1) | AD | 600871 | Neutrophils | Myeloid differentiation | B/T lymphopenia |
| HAX1 deficiency (Kostmann disease; SCN3) | HCLS1-associated protein X-1 (HAX1) | AR | 605998 | Neutrophils | Myeloid differentiation | Cognitive and neurologic defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia |
| G6PC3 deficiency (SCN4) | Glucose-6-phosphatase catalytic subunit 3 (G6PC3) | AR | 611045 | Neutrophils | Myeloid differentiation, chemotaxis, O2+ production | Structural heart defects, urogenital abnormalities, inner ear dearness, venous angiectasias of the trunk and limbs |
| VPS45 deficiency (SCN5) | Vacuolar protein sorting 45 homolog (VPS45) | AR | 610035 | Neutrophils | Myeloid differentiation, migration | Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly |
| Glycogen storage disease type 1b | Solute carrier family 37 member 4 (SLC37A4) | AR | 602671 | Neutrophils, monocytes | Myeloid differentiation, chemotaxis, O2+ production | Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly |
| X-linked neutropenia/myelodysplasia | WASP actin nucleation promoting factor (WAS) | XL GOF | 300299 | Neutrophils | Differentiation, mitosis; results from GOF mutations in GTPase binding domain of WASp | Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies |
| P14/LAMTOR2 deficiency | Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (LAMTOR2) | AR | 610389 | Neutrophils, monocytes | Endosomal biogenesis | Neutropenia, hypogammaglobulinemia, reduced CD8 cytotoxicity, partial albinism, growth failure |
| Barth syndrome (3-methylglutaconic aciduria type II) | Tafazzin, phospholipid-lysophospholipid transacylase (TAFAZZIN) | XL | 300394 | Neutrophils, lymphocytes, melanocytes | Mitochondrial function | Cardiomyopathy, myopathy, growth retardation, neutropenia |
| Cohen syndrome | Vacuolar protein sorting 13 homolog B (VPS13B) | AR | 607817 | Neutrophils | Myeloid differentiation | Dysmorphism, intellectual disability, obesity, deafness, neutropenia |
| Clericuzio syndrome (poikiloderma with neutropenia) | U6 snRNA biogenesis phosphodiesterase 1 (USB1) | AR | 613276 | Neutrophils | Myeloid differentiation | Retinopathy, developmental delay, facial dysmorphisms, poikiloderma |
| JAGN1 deficiency | Jagunal homolog 1 (JAGN1) | AR | 616012 | Neutrophils | Myeloid differentiation | Myeloid maturation arrest, osteopenia |
| 3-methylglutaconic aciduria | Caseinolytic mitochondrial matrix peptidase chaperone subunit B (CLPB) | AR | 616254 | Neutrophils | Myeloid differentiation, mitochondrial protein | Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR |
| G-CSF receptor deficiency | Colony-stimulating factor 3 receptor (CSF3R) | AR | 138971 | Neutrophils | Stress granulopoiesis disturbed | |
| SMARCD2 deficiency | SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily d, member 2 (SMARCD2) | AR | 601736 | Neutrophils | Chromatin remodeling, myeloid differentiation, neutrophil functional defect | Neutropenia, developmental aberrations, bones, HSCs, myelodysplasia |
| Specific granule deficiency | CCAAT enhancer-binding protein epsilon (CEBPE) | AR | 189965 | Neutrophils | Terminal maturation and global dysfunction | Neutropenia, neutrophils with bilobed nuclei |
| Schwachman-Diamond syndrome | SBDS ribosome maturation factor (SBDS) | AR | 607444 | Neutrophils | Neutrophil maturation, chemotaxis, ribosomal biogenesis | Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia |
| DnaJ heat-shock protein family (Hsp40) member C21 (DNAJC21) | AR | 617052 | Neutrophils, HSCs | Neutrophil maturation, chemotaxis, ribosomal biogenesis | Pancytopenia, exocrine pancreatic insufficiency | |
| Elongation factor-like GTPase 1 (EFL1) | AR | 617941 | Neutrophils, HSCs | Neutrophil maturation, chemotaxis, ribosomal biogenesis | Pancytopenia, exocrine pancreatic insufficiency | |
| HYOU1 deficiency | Hypoxia upregulated 1 (HYOU1) | AR | 601746 | Neutrophils | Unfolded protein response | Hypoglycemia, inflammatory complications |
| SRP54 deficiency | Signal recognition particle 54 (SRP54) | AD | 604857 | Neutrophils | Protein translocation to ER, myeloid differentiation, neutrophil functional defect | Neutropenia, exocrine pancreatic insufficiency |
| CXCR2 deficiency | C-X-C motif chemokine receptor 2 (CXCR2) | AR | 619407 | Neutrophils | Reduced expression of CXCR2 on patient cells, impaired responses to CXCL8 | Profound neutropenia, myelokathexis, recurrent gingivitis, oral ulcers, hypergammaglobulinemia |
| Defects of motility | ||||||
| Leukocyte adhesion deficiency type 1 (LAD1) | Integrin subunit beta 1 (ITGB1) | AR | 600065 | Neutrophils, monocytes, lymphocytes, NK cells | Adherence, chemotaxis, endocytosis, T/NK cytotoxicity | Delayed cord separation, skin ulcers, periodontitis, leukocytosis |
| Leukocyte adhesion deficiency type 2 (LAD2) | Solute carrier family 35 member C1 (SLC35C1) | AR | 605881 | Neutrophils, monocytes | Rolling, chemotaxis | Mild LAD1 features with hh-blood group, growth retardation, developmental delay |
| Leukocyte adhesion deficiency type 3 (LAD3) | FERM domain-containing kindlin 3 (FERMT3) | AR | 607901 | Neutrophils, monocytes, lymphocytes, NK cells | Adherence, chemotaxis | LAD1 plus bleeding tendency |
| Rac2 deficiency | Rac family small GTPase 2 (RAC2) | AD LOF | 608203 | Neutrophils | Adherence, chemotaxis, O2+ production | Poor wound healing, leukocytosis |
| Beta actin deficiency | Actin beta (ACTB) | AD | 102630 | Neutrophils, monocytes | Motility | Intellectual disability, short stature |
| Localized juvenile periodontitis | Formyl peptide receptor 1 (FPR1) | AR | 136537 | Neutrophils | Formylpeptide-induced chemotaxis | Periodontitis only |
| Papillon-Lefèvre syndrome | Cathepsin C (CTSC) | AR | 602365 | Neutrophils, monocytes | Chemotaxis | Periodontitis, palmoplantar hyperkeratosis in some patients |
| WDR1 deficiency | WD repeat domain 1 (WDR1) | AR | 604734 | Neutrophils | Spreading, survival, chemotaxis | Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate |
| Cystic fibrosis | CF transmembrane conductance regulator (CFTR) | AR | 602421 | Monocytes only | Chemotaxis | Respiratory infections, pancreatic insufficiency, elevated sweat chloride |
| Neutropenia with combined immunodeficiency due to MKL1 deficiency | Megakaryoblastic leukemia (translocation) 1 (MKL1) | AR | 606078 | Neutrophils, monocytes, lymphocytes, NK cells | Impaired expression of cytoskeletal genes | Mild thrombocytopenia |
| Defects of respiratory burst | ||||||
| XL chronic granulomatous disease (CGD), gp91phox | Cytochrome b-245 beta chain (CYBB) | XL | 306400 | Neutrophils, monocytes | Killing (faulty O2+ production) | Infections, autoinflammatory phenotype, IBD; McLeod phenotype in patients with deletions extending into the contiguous Kell locus |
| AR CGD | Cytochrome b-245 alpha chain (CYBA) | AR | 608508 | Neutrophils, monocytes | Killing (faulty O2+ production) | Infections, autoinflammatory phenotype |
| Cytochrome b-245 chaperone 1 (CYBC1) | AR | 618334 | Neutrophils, monocytes | Killing (faulty O2+ production) | Infections, autoinflammatory phenotype | |
| Neutrophil cytosolic factor 1 (NCF1) | AR | 608512 | Neutrophils, monocytes | Killing (faulty O2+ production) | Infections, autoinflammatory phenotype | |
| Neutrophil cytosolic factor 2 (NCF2) | AR | 608515 | Neutrophils, monocytes | Killing (faulty O2+ production) | Infections, autoinflammatory phenotype | |
| Neutrophil cytosolic factor 4 (NCF4) | AR | 613960 | Neutrophils, monocytes | Killing (faulty O2+ production) | Infections, autoinflammatory phenotype | |
| G6PD deficiency class I | Glucose-6-phosphate dehydrogenase (G6PD) | XL | 305900 | Neutrophils | Reduced O2- production | Infections |
| Other nonlymphoid defects | ||||||
| GATA2 deficiency | GATA-binding protein 2 (GATA2) | AD | 137295 | Monocytes, peripheral DCs | Multilineage cytopenias | Susceptibility to mycobacterial, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMML, lymphedema |
| Pulmonary alveolar proteinosis | Colony-stimulating factor 2 receptor subunit alpha (CSF2RA) | XL (biallelic mutations in pseudoautosomal gene) | 300770 | Alveolar macrophages | GM-CSF signaling | Alveolar proteinosis |
| Colony-stimulating factor 2 receptor subunit beta (CSF2RB) | AR | 614370 | Alveolar macrophages | GM-CSF signaling | Alveolar proteinosis | |
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